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Studies Emphasizes Need for Universal Testing in Breast Cancer Treatment

As part of the virtual San Antonio Breast Cancer Symposium, several studies confirmed the importance of allowing access to genetic information and testing for breast cancer patients.

One of the studies showed that 1 in 8 breast cancer patients had genetic variants that can increase the risk of more aggressive disease, and may affect the treatment options for patients and providers.

The study results were published in JAMA Oncology, with a release about the trial noting that testing rates among the patients’ families were low.

In a second study, researchers looked at the clinical outcomes of breast cancer patients after undergoing germline testing.

The release noted that 60% of patients who received chemotherapy based on their germline variants did not meet testing criteria. As a result, patients may not receive the treatments that would be most effective in helping them.

A third study in the release looked at germline genetic testing in several countries and the impact of limiting access to testing for patients in those and other countries. According to the release, the researchers used international testing criteria in US breast cancer patients.

The results showed that more than 70% of patients with pathogenic variants would not have qualified under the current guidelines for germline testing. More than 80% of the pathogenic variants for patients who fell out of the guidelines were found to have genes with specific management guidelines, according to the release.

"It’s clear that the current guidelines are too restrictive and, as a result, many patients with breast cancer whose care could be improved by access to precision medicine approaches are being missed. Universal testing for all patients with solid tumor cancer, including breast cancer, can help inform treatment and improve outcomes for patients," Robert Nussbaum, MD, chief medical officer of Invitae, said in the release.

Dr Nussbaum added that their research and other studies have shown the importance of universal testing for patients worldwide and the need to expand testing guidelines to allow patients and families access to the information and treatments they need.

By Adam Hochron

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